World Haemophilia Day is Friday 17th April 2020, a day which coincides with Frank Schnabel’s birthday (founder of the World Federation of Haemophilia). This day has been used to raise awareness around haemophilia and other bleeding disorders since 1989.
But, what is haemophilia?
Haemophilia is a genetic and life-threatening bleeding disorder mainly affecting males due to it being an X-linked chromosome mutation, however, women can be affected but this is usually a milder form. Those with haemophilia are unable to clot their blood, making them susceptible to loosing excessive amounts of blood from a small cut or graze. In young children this shows as large frequent bruises which can be one of the early tell-tale signs along with prolonged bleeding following injections. Yet frequently, those who only have a mild case of haemophilia may reach adulthood and not know they have this potentially fatal bleeding disorder. For these people with mild haemophilia the first time they become aware of a problem is following surgery or a dental procedure.
How common is haemophilia?
There are various types of haemophilia but the main two are A and B.
A: occurs in 1/7,500 and is caused by low levels of clotting factor VIII
B: occurs in 1/40,000 and is caused by low levels of clotting factor IX
(Clotting factors are proteins in the blood that help control bleeding.)
Globally, it is estimated that 440,000 people are living with haemophilia. Detecting haemophilia can be done before and during pregnancy if there is a family history of bleeding disorders. Before birth, genetic testing can be performed to determine the risk of a couple having a child with haemophilia. Whereas during pregnancy if a woman wanted to know if the unborn child has haemophilia the tests offered are chorionic villus sampling, this involves taking a small sample of the placenta to be tested for the haemophilia gene and is offered from 11-14 weeks of pregnancy. Alternatively, from weeks 15-20 of pregnancy amniocentesis would be used to test for haemophilia, this procedure involves a sample of amniotic fluid being taken for testing. Both amniocentesis and chorionic villus sampling carry the risk of miscarriage and premature labour and may discourage an expectant mother from finding out if their child has haemophilia until after birth. If a person is suspected of having haemophilia a blood test can diagnose and tell doctors what type of haemophilia and the severity.
Is there a treatment available?
Currently there is no cure for haemophilia, there is only treatment to replace clotting factors and prevention to minimise injury and blood loss. Depending on the severity of the persons haemophilia they may need to take clotting factors weekly for the rest of their life, those with mild haemophilia do not need clotting factors as they produce their own, just in lesser amounts than the average person. Prevention is an important part of managing haemophilia and preventing further blood loss. Those affected are advised not to take aspirin or ibuprofen as these medications are associated with prolonged bleeding and may further worsen a person’s haemophilia. Additionally, lifestyle advice is given to avoid contact sports such as rugby, wrestling, and boxing as these are known to be sports where those involved are likely to experience an injury. Even non-contact sports such as ball games have the risk of injuries and must be discussed with a doctor. This limits a child with haemophilia from joining in with a kick about with friends or joining a sports team at school.
Life expectancy and outlook
The average life expectancy of someone with haemophilia depends on severity and treatment - someone with severe disease who does not receive any treatment is not expected to live to adulthood. However, those who do receive appropriate treatment can expect to live to just under average life expectancy. This is a drastic improvement from the 1960s before treatment was available, when the average life expectancy for someone with haemophilia was 11 years of age.
Summary
Haemophilia is a rare genetic blood disorder that causes uncontrollable bleeding in sufferers, and despite not being a life limiting disease, it is life changing. Those who have haemophilia must be careful of injury and simple everyday life we take for granted, as a small cut or bruise could be fatal for them. So, with today being World Haemophilia Day we should celebrate and think of those who have haemophilia.
